HLA-A
Summary: HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| major histocompatibility complex, class I, A | MIM:142800 | Ensembl:ENSG00000206503 | HGNC:HGNC:4931 | PA35055 | 6p22.1 |
GO terms in HLA-A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | ISS | GO:0005783 | endoplasmic reticulum |
| CC | ISS | GO:0005794 | Golgi apparatus |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | ISS | GO:0009986 | cell surface |
| CC | TAS | GO:0012507 | ER to Golgi transport vesicle membrane |
| CC | TAS | GO:0030670 | phagocytic vesicle membrane |
| CC | TAS | GO:0031901 | early endosome membrane |
| CC | ISS | GO:0042612 | MHC class I protein complex |
| CC | TAS | GO:0055038 | recycling endosome membrane |
| CC | TAS | GO:0071556 | integral component of lumenal side of endoplasmic reticulum membrane |
| BP | IBA | GO:0001916 | positive regulation of T cell mediated cytotoxicity |
| BP | IBA | GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I |
| BP | TAS | GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I |
| BP | IBA | GO:0002476 | antigen processing and presentation of endogenous peptide antigen via MHC class Ib |
| BP | TAS | GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent |
| BP | TAS | GO:0002480 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent |
| BP | IBA | GO:0006955 | immune response |
| BP | IEA | GO:0016032 | viral process |
| BP | TAS | GO:0050776 | regulation of immune response |
| BP | TAS | GO:0060333 | interferon-gamma-mediated signaling pathway |
| BP | TAS | GO:0060337 | type I interferon signaling pathway |
| MF | HDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IMP | GO:0030881 | beta-2-microglobulin binding |
| MF | ISS | GO:0030881 | beta-2-microglobulin binding |
| MF | IBA | GO:0042605 | peptide antigen binding |
| MF | IMP | GO:0042605 | peptide antigen binding |
| MF | ISS | GO:0042605 | peptide antigen binding |
Gene expression in normal tissue: HLA-A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HLA-A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | mhcpathway | antigen processing and presentation |
| biocarta | nkcellspathway | ras-independent pathway in nk cell-mediated cytotoxicity |
| reactome | R-HSA-1236974 | ER-Phagosome pathway |
| reactome | R-HSA-1236974 | ER-Phagosome pathway |
| reactome | R-HSA-1236975 | Antigen processing-Cross presentation |
| reactome | R-HSA-1236975 | Antigen processing-Cross presentation |
| reactome | R-HSA-1236977 | Endosomal/Vacuolar pathway |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-877300 | Interferon gamma signaling |
| reactome | R-HSA-8852135 | Protein ubiquitination |
| reactome | R-HSA-8866654 | E3 ubiquitin ligases ubiquitinate target proteins |
| reactome | R-HSA-909733 | Interferon alpha/beta signaling |
| reactome | R-HSA-913531 | Interferon Signaling |
| reactome | R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
| reactome | R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
| reactome | R-HSA-983170 | Antigen Presentation: Folding, assembly and peptide loading of class I MHC |
| reactome | R-HSA-983170 | Antigen Presentation: Folding, assembly and peptide loading of class I MHC |
| wikipathways | WP183 | Proteasome Degradation |
| wikipathways | WP2328 | Allograft Rejection |
| pid | ap1_pathway | AP-1 transcription factor network |
| pid | cd8tcrdownstreampathway | Downstream signaling in naïve CD8+ T cells |
| pid | cd8tcrpathway | TCR signaling in naïve CD8+ T cells |
| pid | il12_2pathway | IL12-mediated signaling events |
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04145 | Phagosome - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa04514 | Cell adhesion molecules (CAMs) - Homo sapiens (human) |
| kegg | hsa04612 | Antigen processing and presentation - Homo sapiens (human) |
| kegg | hsa04650 | Natural killer cell mediated cytotoxicity - Homo sapiens (human) |
| kegg | hsa04940 | Type I diabetes mellitus - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05167 | Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human) |
| kegg | hsa05168 | Herpes simplex infection - Homo sapiens (human) |
| kegg | hsa05169 | Epstein-Barr virus infection - Homo sapiens (human) |
| kegg | hsa05203 | Viral carcinogenesis - Homo sapiens (human) |
| kegg | hsa05320 | Autoimmune thyroid disease - Homo sapiens (human) |
| kegg | hsa05330 | Allograft rejection - Homo sapiens (human) |
| kegg | hsa05332 | Graft-versus-host disease - Homo sapiens (human) |
| kegg | hsa05416 | Viral myocarditis - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD292 | NSC87877 | 1 |
| iGMDRD454 | JNK Inhibitor VIII | 1 |
| iGMDRD412 | VX-702 | 1 |
| iGMDRD109 | Gefitinib | 1 |
| iGMDRD659 | Avagacestat (BMS-708163) | 1 |
| iGMDRD792 | Cetuximab | 1 |
| iGMDRD12 | Bicalutamide | 1 |
| iGMDRD593 | CX-5461 | 1 |
| iGMDRD759 | PFI-1 | 1 |
| iGMDRD135 | Lenalidomide | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HLA-A
CLASSFICATION
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